Incidental Mutation 'R2186:Zfp286'
| ID |
237780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp286
|
| Ensembl Gene |
ENSMUSG00000047342 |
| Gene Name |
zinc finger protein 286 |
| Synonyms |
|
| MMRRC Submission |
040188-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2186 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62643403-62680288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62671287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 262
(V262A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054654]
[ENSMUST00000108705]
[ENSMUST00000207597]
|
| AlphaFold |
Q8C0E6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054654
AA Change: V262A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055517
Gene: ENSMUSG00000047342
AA Change: V262A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
50 |
114 |
1.2e-17 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
1.15e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108705
|
| SMART Domains |
Protein: ENSMUSP00000104345
Gene: ENSMUSG00000047342
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
50 |
114 |
1.2e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152602
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207597
|
| Meta Mutation Damage Score |
0.4180 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,340 (GRCm39) |
N29S |
probably damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,965,737 (GRCm39) |
V92A |
possibly damaging |
Het |
| Asgr1 |
G |
A |
11: 69,947,075 (GRCm39) |
R66Q |
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,200,780 (GRCm39) |
Q796L |
probably damaging |
Het |
| Camk4 |
A |
C |
18: 33,315,394 (GRCm39) |
D307A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,938,468 (GRCm39) |
Y725C |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,679,876 (GRCm39) |
Q1119L |
probably damaging |
Het |
| Cep85l |
G |
A |
10: 53,224,714 (GRCm39) |
P292S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,462,576 (GRCm39) |
|
probably null |
Het |
| Cilk1 |
C |
T |
9: 78,038,769 (GRCm39) |
T6M |
probably benign |
Het |
| Cts8 |
C |
A |
13: 61,399,545 (GRCm39) |
C138F |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,246,894 (GRCm39) |
E54* |
probably null |
Het |
| Dnaja1 |
T |
A |
4: 40,732,853 (GRCm39) |
D367E |
probably benign |
Het |
| Duoxa2 |
T |
C |
2: 122,129,655 (GRCm39) |
I45T |
probably damaging |
Het |
| EU599041 |
C |
T |
7: 42,875,333 (GRCm39) |
|
noncoding transcript |
Het |
| Exoc5 |
T |
C |
14: 49,252,936 (GRCm39) |
M561V |
probably benign |
Het |
| Fam184a |
T |
C |
10: 53,514,290 (GRCm39) |
I296V |
probably damaging |
Het |
| Fbxl18 |
C |
T |
5: 142,864,516 (GRCm39) |
V686M |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,318 (GRCm39) |
S2088P |
probably damaging |
Het |
| Fus |
G |
A |
7: 127,584,706 (GRCm39) |
|
probably benign |
Het |
| Gpr183 |
T |
A |
14: 122,191,727 (GRCm39) |
I265L |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,347,183 (GRCm39) |
L2013V |
probably benign |
Het |
| Iqca1 |
T |
C |
1: 90,009,066 (GRCm39) |
K430R |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,759,524 (GRCm39) |
G82E |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,500 (GRCm39) |
C20R |
probably damaging |
Het |
| Kmt2c |
C |
A |
5: 25,492,110 (GRCm39) |
C852F |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,466 (GRCm39) |
K1199* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,211,643 (GRCm39) |
Y421C |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,375,914 (GRCm39) |
L96P |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,945,145 (GRCm39) |
F29S |
possibly damaging |
Het |
| Mlh1 |
T |
C |
9: 111,087,634 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
T |
C |
12: 78,866,145 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,599,228 (GRCm39) |
T867A |
unknown |
Het |
| Sdk1 |
T |
A |
5: 142,032,047 (GRCm39) |
S1041T |
probably benign |
Het |
| Serpinb2 |
A |
G |
1: 107,451,694 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,387,030 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,046,792 (GRCm39) |
S251P |
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,708 (GRCm39) |
Y392C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,758,220 (GRCm39) |
C338S |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,824,061 (GRCm39) |
|
probably null |
Het |
| Vnn1 |
A |
T |
10: 23,773,299 (GRCm39) |
I109L |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,528 (GRCm39) |
V1312A |
probably benign |
Het |
| Zbed6 |
A |
G |
1: 133,585,817 (GRCm39) |
S507P |
probably damaging |
Het |
| Zfp28 |
A |
G |
7: 6,397,497 (GRCm39) |
H644R |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,807,962 (GRCm39) |
M1694K |
probably benign |
Het |
|
| Other mutations in Zfp286 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02659:Zfp286
|
APN |
11 |
62,674,563 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02745:Zfp286
|
APN |
11 |
62,671,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02826:Zfp286
|
APN |
11 |
62,678,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0233:Zfp286
|
UTSW |
11 |
62,671,219 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0233:Zfp286
|
UTSW |
11 |
62,671,219 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0318:Zfp286
|
UTSW |
11 |
62,675,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Zfp286
|
UTSW |
11 |
62,674,534 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1994:Zfp286
|
UTSW |
11 |
62,670,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Zfp286
|
UTSW |
11 |
62,671,896 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4327:Zfp286
|
UTSW |
11 |
62,670,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4453:Zfp286
|
UTSW |
11 |
62,671,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4479:Zfp286
|
UTSW |
11 |
62,671,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Zfp286
|
UTSW |
11 |
62,674,559 (GRCm39) |
nonsense |
probably null |
|
|
R4667:Zfp286
|
UTSW |
11 |
62,671,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Zfp286
|
UTSW |
11 |
62,671,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4978:Zfp286
|
UTSW |
11 |
62,679,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5120:Zfp286
|
UTSW |
11 |
62,671,551 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5533:Zfp286
|
UTSW |
11 |
62,671,796 (GRCm39) |
intron |
probably benign |
|
|
R7236:Zfp286
|
UTSW |
11 |
62,674,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7464:Zfp286
|
UTSW |
11 |
62,671,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8065:Zfp286
|
UTSW |
11 |
62,644,345 (GRCm39) |
missense |
unknown |
|
|
R8067:Zfp286
|
UTSW |
11 |
62,644,345 (GRCm39) |
missense |
unknown |
|
|
R8716:Zfp286
|
UTSW |
11 |
62,671,817 (GRCm39) |
missense |
unknown |
|
|
R9351:Zfp286
|
UTSW |
11 |
62,670,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1186:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1190:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTAAGAGATGAGCAGTGGC -3'
(R):5'- TGATGACAGAGACCCCAAAGGA -3'
Sequencing Primer
(F):5'- TTCACCCCAGTATGAATCAGCTGATG -3'
(R):5'- CAAAGGATCCTGGGACGTTCAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation